Canonical Allele Identifier: CA500143597

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865269
• ClinVar RCV Id: RCV001072656 ; RCV002554646
• dbSNP Id: rs2051209584
• MyVariant Identifiers: chr17:g.41203120T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051103T>G , CM000679.2:g.43051103T>G	GRCh38
NC_000017.10:g.41203120T>G , CM000679.1:g.41203120T>G	GRCh37
NC_000017.9:g.38456646T>G	NCBI36
NG_005905.2:g.166881A>C , LRG_292:g.166881A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5289A>C	ENSP00000417241.2:p.Leu1763=
ENST00000470026.6:c.5292A>C	ENSP00000419274.2:p.Leu1764=
ENST00000473961.6:c.5166A>C	ENSP00000420201.2:p.Leu1722=
ENST00000476777.6:c.5286A>C	ENSP00000417554.2:p.Leu1762=
ENST00000477152.6:c.5214A>C	ENSP00000419988.2:p.Leu1738=
ENST00000478531.6:c.1980A>C	ENSP00000420412.2:p.Leu660=
ENST00000489037.2:c.5214A>C	ENSP00000420781.2:p.Leu1738=
ENST00000493919.6:c.1842A>C	ENSP00000418819.2:p.Leu614=
ENST00000494123.6:c.5292A>C	ENSP00000419103.2:p.Leu1764=
ENST00000497488.2:c.4404A>C	ENSP00000418986.2:p.Leu1468=
ENST00000618469.2:c.5292A>C	ENSP00000478114.2:p.Leu1764=
ENST00000634433.2:c.5169A>C	ENSP00000489431.2:p.Leu1723=
ENST00000644379.2:c.5358A>C	ENSP00000496570.2:p.Leu1786=
ENST00000644555.2:c.1842A>C	ENSP00000494614.2:p.Leu614=
ENST00000652672.2:c.5151A>C	ENSP00000498906.2:p.Leu1717=
ENST00000484087.6:c.1854A>C	ENSP00000419481.2:p.Leu618=
ENST00000357654.9:c.5292A>C MANE Select	ENSP00000350283.3:p.Leu1764=
ENST00000471181.7:c.5355A>C	ENSP00000418960.2:p.Leu1785=
ENST00000644379.1:c.1679A>C
ENST00000352993.7:c.1866A>C	ENSP00000312236.5:p.Leu622=
ENST00000357654.7:c.5292A>C	ENSP00000350283.3:p.Leu1764=
ENST00000461221.5:c.*5075A>C	ENSP00000418548.1:n.*5075A>C
ENST00000468300.5:c.1980A>C	ENSP00000417148.1:p.Leu660=
ENST00000471181.6:c.5355A>C	ENSP00000418960.2:p.Leu1785=
ENST00000491747.6:c.1980A>C	ENSP00000420705.2:p.Leu660=
ENST00000493795.5:c.5151A>C	ENSP00000418775.1:p.Leu1717=
ENST00000586385.5:c.222A>C	ENSP00000465818.1:p.Leu74=
ENST00000591534.5:c.765A>C	ENSP00000467329.1:p.Leu255=
ENST00000591849.5:c.-98-913A>C	ENSP00000465347.1:n.-98-913A>C
NM_007294.3:c.5292A>C , LRG_292t1:c.5292A>C	NP_009225.1:p.Leu1764=
NM_007297.3:c.5151A>C	NP_009228.2:p.Leu1717=
NM_007298.3:c.1980A>C	NP_009229.2:p.Leu660=
NM_007299.3:c.1980A>C	NP_009230.2:p.Leu660=
NM_007300.3:c.5355A>C	NP_009231.2:p.Leu1785=
NR_027676.1:n.5428A>C
NM_007294.4:c.5292A>C MANE Select	NP_009225.1:p.Leu1764=
NM_007297.4:c.5151A>C	NP_009228.2:p.Leu1717=
NM_007299.4:c.1980A>C	NP_009230.2:p.Leu660=
NM_007300.4:c.5355A>C	NP_009231.2:p.Leu1785=
NR_027676.2:n.5469A>C